Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

200 matching diseasesClear search ×

Congenital enteropathy due to enteropeptidase deficiency

Congenital enterokinase deficiency

ORPHA:168601

Congenital enteropathy involving intestinal mucosa development

ORPHA:104007

Congenital erythropoietic porphyria

CEP · Günther disease

ORPHA:79277

Congenital fiber-type disproportion myopathy

CFTDM

ORPHA:2020

Congenital generalized lipodystrophy type 4

GCL4 · Berardinelli-Seip syndrome type 4, BSCL type 4

ORPHA:228429

Congenital generalized lipodystrophy

BSCL · Berardinelli-Seip syndrome

ORPHA:528

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

ORPHA:98975

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

ORPHA:293603